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Aliases for NLRP6 Gene

Aliases for NLRP6 Gene

  • NLR Family, Pyrin Domain Containing 6 2 3
  • PYPAF5 3 4 6
  • NALP6 3 4 6
  • NACHT, Leucine Rich Repeat And PYD Containing 6 2 3
  • PYRIN-Containing APAF1-Like Protein 5 3 4
  • Angiotensin II/Vasopressin Receptor 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 6 3
  • Leucine Rich Repeat And Pyrin Domain Containing 6 2
  • NACHT, LRR And PYD Domains-Containing Protein 6 3
  • Nucleotide-Binding Oligomerization Domain 2
  • NACHT, LRR And PYD Containing Protein 6 3
  • NAVR/AVR 3
  • CLR11.4 3
  • NAVR 3
  • PAN3 3
  • AVR 3

External Ids for NLRP6 Gene

Previous HGNC Symbols for NLRP6 Gene

  • NALP6

Previous GeneCards Identifiers for NLRP6 Gene

  • GC11P000098

Summaries for NLRP6 Gene

Entrez Gene Summary for NLRP6 Gene

  • The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

GeneCards Summary for NLRP6 Gene

NLRP6 (NLR Family, Pyrin Domain Containing 6) is a Protein Coding gene. Diseases associated with NLRP6 include colitis. Among its related pathways are Gene Expression and Deadenylation-dependent mRNA decay. GO annotations related to this gene include vasopressin receptor activity. An important paralog of this gene is NLRC3.

UniProtKB/Swiss-Prot for NLRP6 Gene

  • May contribute to arginine-vasopressin (AVP)-mediated regulation of renal salt-water balance, glucose and lipid metabolism, apoptosis, and/or cell cycle. Binds arginine-vasopressin but not angiotensin II and acts as an arginine-vasopressin V2 receptor. Plays a role in modulating inflammatory responses in the colon to allow recovery from intestinal epithelial damage and limit tumorigenic potential. Protects against the development of colitis by controlling the composition of the gut microbiota by preventing colonization of the colon by harmful, inflammation-inducing bacteria such as Prevotella species. May mediate activation of CASP1 via ASC, promote activation of NF-kappa-B and stimulate cAMP accumulation (By similarity).

Gene Wiki entry for NLRP6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRP6 Gene

Genomics for NLRP6 Gene

Regulatory Elements for NLRP6 Gene

Genomic Location for NLRP6 Gene

Start:
278,365 bp from pter
End:
285,388 bp from pter
Size:
7,024 bases
Orientation:
Plus strand

Genomic View for NLRP6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NLRP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP6 Gene

Proteins for NLRP6 Gene

  • Protein details for NLRP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59044-NALP6_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 6
    Protein Accession:
    P59044
    Secondary Accessions:
    • A8K9F3
    • E9PJZ8

    Protein attributes for NLRP6 Gene

    Size:
    892 amino acids
    Molecular mass:
    98768 Da
    Quaternary structure:
    • Binds to ASC with its DAPIN domain

    Alternative splice isoforms for NLRP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRP6 Gene

Proteomics data for NLRP6 Gene at MOPED

Post-translational modifications for NLRP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NLRP6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NLRP6 Gene

Domains for NLRP6 Gene

Gene Families for NLRP6 Gene

HGNC:
  • NLR :Nucleotide-binding domain and leucine rich repeat containing
IUPHAR :

Suggested Antigen Peptide Sequences for NLRP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P59044

UniProtKB/Swiss-Prot:

NALP6_HUMAN :
  • P59044
Domain:
  • Contains 1 DAPIN domain.
  • Contains 1 NACHT domain.
Family:
  • Belongs to the NLRP family.
Similarity:
  • Contains 5 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with NLRP6: view

Function for NLRP6 Gene

Molecular function for NLRP6 Gene

UniProtKB/Swiss-Prot Function: May contribute to arginine-vasopressin (AVP)-mediated regulation of renal salt-water balance, glucose and lipid metabolism, apoptosis, and/or cell cycle. Binds arginine-vasopressin but not angiotensin II and acts as an arginine-vasopressin V2 receptor. Plays a role in modulating inflammatory responses in the colon to allow recovery from intestinal epithelial damage and limit tumorigenic potential. Protects against the development of colitis by controlling the composition of the gut microbiota by preventing colonization of the colon by harmful, inflammation-inducing bacteria such as Prevotella species. May mediate activation of CASP1 via ASC, promote activation of NF-kappa-B and stimulate cAMP accumulation (By similarity).

Gene Ontology (GO) - Molecular Function for NLRP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005000 vasopressin receptor activity ISS --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NLRP6: view
genes like me logo Genes that share phenotypes with NLRP6: view

Animal Models for NLRP6 Gene

MGI Knock Outs for NLRP6:

Animal Model Products

CRISPR Products

miRNA for NLRP6 Gene

miRTarBase miRNAs that target NLRP6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NLRP6 Gene

Localization for NLRP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP6 Gene

Cytoplasm. Cell membrane. Nucleus membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NLRP6 Gene COMPARTMENTS Subcellular localization image for NLRP6 gene
Compartment Confidence
cytosol 3
nucleus 3
plasma membrane 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NLRP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with NLRP6: view

Pathways for NLRP6 Gene

genes like me logo Genes that share pathways with NLRP6: view

Pathways by source for NLRP6 Gene

1 KEGG pathway for NLRP6 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for NLRP6 Gene

Gene Ontology (GO) - Biological Process for NLRP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway ISS --
GO:0009617 response to bacterium IEA --
GO:0010506 regulation of autophagy IEA --
GO:0034122 negative regulation of toll-like receptor signaling pathway IEA --
GO:0042060 wound healing IEA --
genes like me logo Genes that share ontologies with NLRP6: view

Transcripts for NLRP6 Gene

mRNA/cDNA for NLRP6 Gene

(3) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NLRP6 Gene

NLR family, pyrin domain containing 6:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NLRP6

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NLRP6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP6 Gene

No ASD Table

Relevant External Links for NLRP6 Gene

GeneLoc Exon Structure for
NLRP6
ECgene alternative splicing isoforms for
NLRP6

Expression for NLRP6 Gene

mRNA expression in normal human tissues for NLRP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRP6 Gene

This gene is overexpressed in Whole Blood (25.3) and Small Intestine - Terminal Ileum (18.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NLRP6 Gene

SOURCE GeneReport for Unigene cluster for NLRP6 Gene Hs.352611

mRNA Expression by UniProt/SwissProt for NLRP6 Gene

P59044-NALP6_HUMAN
Tissue specificity: Highly expressed in granulocytes. Detected at much lower levels in T-cells
genes like me logo Genes that share expressions with NLRP6: view

In Situ Assay Products

Orthologs for NLRP6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLRP6 35
  • 97.36 (n)
  • 96.75 (a)
NLRP6 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NLRP6 35
  • 82.24 (n)
  • 75.84 (a)
NLRP6 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NLRP6 35
  • 80.89 (n)
  • 75.09 (a)
NLRP6 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nlrp6 35
  • 74.99 (n)
  • 72.47 (a)
Nlrp6 16
Nlrp6 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 36 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Nlrp6 35
  • 76.13 (n)
  • 73.8 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 29 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii CU693495.1 36
  • 23 (a)
ManyToMany
nlrb5 36
  • 22 (a)
ManyToMany
si:ch211-66k16.2 36
  • 26 (a)
ManyToMany
si:ch211-66k16.28 36
  • 15 (a)
ManyToMany
Species with no ortholog for NLRP6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NLRP6 Gene

ENSEMBL:
Gene Tree for NLRP6 (if available)
TreeFam:
Gene Tree for NLRP6 (if available)

Paralogs for NLRP6 Gene

Selected SIMAP similar genes for NLRP6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NLRP6: view

Variants for NLRP6 Gene

Sequence variations from dbSNP and Humsavar for NLRP6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs760058 -- 279,214(+) GCTTG(C/G)CCCGG intron-variant
rs760059 -- 284,716(+) GGGCT(C/T)CCCCT intron-variant
rs4029217 -- 285,049(+) CGGCC(A/G)CCCCC intron-variant
rs4758626 -- 279,798(+) TTCCC(A/G)CCCTC intron-variant
rs4758627 -- 280,000(+) AGCAG(A/G)GCCGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NLRP6 Gene

Variant ID Type Subtype PubMed ID
dgv911n71 CNV Gain 21882294
nsv896440 CNV Gain 21882294
esv32593 CNV Loss 17666407
nsv896447 CNV Loss 21882294
dgv913n71 CNV Loss 21882294
dgv914n71 CNV Loss 21882294
dgv915n71 CNV Loss 21882294
nsv7212 OTHER Inversion 18451855
dgv916n71 CNV Loss 21882294
nsv482153 CNV Gain 20164927
dgv186n67 CNV Gain 20364138
dgv917n71 CNV Loss 21882294

Relevant External Links for NLRP6 Gene

HapMap Linkage Disequilibrium report
NLRP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP6 Gene

Disorders for NLRP6 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for NLRP6 Gene including...

Search for NLRP6 Gene in MalaCards »

Relevant External Links for NLRP6

Genetic Association Database (GAD)
NLRP6
Human Genome Epidemiology (HuGE) Navigator
NLRP6
genes like me logo Genes that share disorders with NLRP6: view

No data available for UniProtKB/Swiss-Prot for NLRP6 Gene

Publications for NLRP6 Gene

  1. Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1. (PMID: 12387869) Grenier J.M. … Bertin J. (FEBS Lett. 2002) 3 4 23
  2. PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. (PMID: 12019269) Wang L. … Bertin J. (J. Biol. Chem. 2002) 2 3 4
  3. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J. … Burns K. (Nat. Rev. Mol. Cell Biol. 2003) 2 3 4
  4. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings J.R. … Jewell D.P. (Tissue Antigens 2010) 3 48
  5. AVR/NAVR deficiency lowers blood pressure and differentially affects urinary concentrating ability, cognition, and anxiety-like behavior in male and female mice. (PMID: 20923861) Herrera V.L. … Ruiz-Opazo N. (Physiol. Genomics 2011) 3

Products for NLRP6 Gene

Sources for NLRP6 Gene

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